Linked Data
dbSNP Id:
rs10857636
gnomAD v2:
10-49985110-C-T
gnomAD v3:
10-48777065-C-T
gnomAD v4:
10-48777065-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.48777065C>T , CM000672.2:g.48777065C>T | GRCh38 |
| NC_000010.10:g.49985110C>T , CM000672.1:g.49985110C>T | GRCh37 |
| NC_000010.9:g.49655116C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000325239.12:c.3098+81C>T MANE Select | ENSP00000320563.5:n.3098+81C>T | |
| ENST00000325239.11:c.3098+81C>T | ENSP00000320563.5:n.3098+81C>T | |
| ENST00000325239.9:c.3098+81C>T | ENSP00000320563.5:n.3098+81C>T | |
| NM_020945.1:c.3098+81C>T | NP_065996.1:n.3098+81C>T | |
| XM_005270004.2:c.3098+81C>T | XP_005270061.1:n.3098+81C>T | |
| XM_011539986.1:c.3098+81C>T | XP_011538288.1:n.3098+81C>T | |
| XM_011539987.1:c.3098+81C>T | XP_011538289.1:n.3098+81C>T | |
| XM_011539988.1:c.3098+81C>T | XP_011538290.1:n.3098+81C>T | |
| XM_011539989.1:c.3218+81C>T | XP_011538291.1:n.3218+81C>T | |
| XM_011539990.1:c.3218+81C>T | XP_011538292.1:n.3218+81C>T | |
| XM_011539991.1:c.3218+81C>T | XP_011538293.1:n.3218+81C>T | |
| XM_011539992.1:c.3218+81C>T | XP_011538294.1:n.3218+81C>T | |
| XM_005270004.3:c.3098+81C>T | XP_005270061.1:n.3098+81C>T | |
| XM_011539986.3:c.3218+81C>T | XP_011538288.2:n.3218+81C>T | |
| XM_011539987.2:c.3218+81C>T | XP_011538289.2:n.3218+81C>T | |
| XM_011539988.2:c.3098+81C>T | XP_011538290.1:n.3098+81C>T | |
| XM_011539990.3:c.3218+81C>T | XP_011538292.1:n.3218+81C>T | |
| XM_011539991.3:c.3218+81C>T | XP_011538293.1:n.3218+81C>T | |
| XM_011539992.2:c.3218+81C>T | XP_011538294.1:n.3218+81C>T | |
| XM_017016463.1:c.3098+81C>T | XP_016871952.1:n.3098+81C>T | |
| XM_017016465.2:c.3098+81C>T | XP_016871954.1:n.3098+81C>T | |
| NM_001370153.1:c.3098+81C>T | NP_001357082.1:n.3098+81C>T | |
| NM_020945.2:c.3098+81C>T | NP_065996.1:n.3098+81C>T | |
| NM_001394531.1:c.3098+81C>T MANE Select | NP_001381460.1:n.3098+81C>T |